A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2516798



Internal ID8233670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:144984771..145022677hg38UCSC Ensembl
Innerchr1:143986424..144024333hg19UCSC Ensembl
Innerchr1:142697781..142735690hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3837907
hg1937910
hg1837910
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5213959
SamplesNA18507
Known Genes
MethodSequencing
AnalysisCopy number variations are detected using the SOLiD Human CNV Tool. Regions with poor mappability are filtered out from consideration and a log ratio of coverage is used to determine areas of increased copy number. A Hidden Markov Model converts increased coverage into discrete copy number states.
PlatformNot specified
CommentsoriginalFile=Yoruban_cnv.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2516798
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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